Sandbox Reserved 1103: Difference between revisions

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=== Dyskeratosis congenita ===

~~The unifying features~~ Dyskeratosis congenita (DC) is a disorder which is characterised by bone marrow dysfunction, abnormality of the skin, mucocutaneous triad of oral leucoplakia, nail dystrophy, as well as a predisposition to cancer.

Dyskeratosis congenita (DC) is a disorder which is characterised by bone marrow dysfunction, abnormality of the skin, mucocutaneous triad of oral leucoplakia, nail dystrophy, as well as a predisposition to cancer.

~~TIN2~~ is one of the nine identified genes that when mutated are related to the Dyskeratosis congenita, the others being DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, TCAB1 and PARN.

TINF2 is one of the nine identified genes that when mutated are related to the Dyskeratosis congenita, the others being DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, TCAB1 and PARN.

~~The mutated region of TIN2 in Dyskeratosis congenita patients is situated near the ends of its TRF1 binding domain.~~ The majority of identified TIN2-DC mutations cluster is a highly conserved 30-amino-acid region from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif ~~that mediates~~ binding of TIN2 ~~to TRF1~~ <ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E <ref>PMID: 18202258 </ref> <ref>PMID: 18252230 </ref>.

The majority of identified TIN2-DC mutations cluster is a highly conserved 30-amino-acid region near the ends of its TRF1 binding domain, from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif. A disrutpion of this domain causes a loss of TRF1 binding to TIN2;<ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E <ref>PMID: 18202258 </ref> <ref>PMID: 18252230 </ref>.

=== Revesz syndrome ===

Revesz syndrome is characterised by bone marrow <ref>PMID: 17901676 </ref>. Revesz syndrome is according to some researcher to be part of the DKC disease spectrum. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12. There is no treatment for this disease yet.

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@@ Line 27: / Line 27: @@
 === Dyskeratosis congenita ===
-The unifying features Dyskeratosis congenita (DC) is a disorder which is characterised by bone marrow dysfunction, abnormality of the skin, mucocutaneous triad of oral leucoplakia, nail dystrophy, as well as a predisposition to cancer.
+Dyskeratosis congenita (DC) is a disorder which is characterised by bone marrow dysfunction, abnormality of the skin, mucocutaneous triad of oral leucoplakia, nail dystrophy, as well as a predisposition to cancer.
-TIN2 is one of the nine identified genes that when mutated are related to the Dyskeratosis congenita, the others being DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, TCAB1 and PARN.
+TINF2 is one of the nine identified genes that when mutated are related to the Dyskeratosis congenita, the others being DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, TCAB1 and PARN.
-The mutated region of TIN2 in Dyskeratosis congenita patients is situated near the ends of its TRF1 binding domain. The majority of identified TIN2-DC mutations cluster is a highly conserved 30-amino-acid region from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif that mediates binding of TIN2 to TRF1 <ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E <ref>PMID: 18202258 </ref> <ref>PMID: 18252230 </ref>.
+The majority of identified TIN2-DC mutations cluster is a highly conserved 30-amino-acid region near the ends of its TRF1 binding domain, from position 270 to 300, located eight amino acids C-terminal to the FxLxP motif. A disrutpion of this domain causes a loss of TRF1 binding to TIN2;<ref>PMID: 18252230 </ref>. Another proposal is that TIN2 help TPP1, another component of the shelterin complex, in the recruitment of telomerase through an unknown mechanism that is disrupted by the TIN2-DC mutations, including K280E <ref>PMID: 18202258 </ref> <ref>PMID: 18252230 </ref>.
 === Revesz syndrome ===
 Revesz syndrome is characterised by bone marrow <ref>PMID: 17901676 </ref>. Revesz syndrome is according to some researcher to be part of the DKC disease spectrum. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12. There is no treatment for this disease yet.